Organisatie
Vakgroep Pediatrie en genetica
Department
Publicaties
1 - 10 van 226
- Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation(2012)
Auteurs: Peter M Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan E Holder, Geert R Mortier, Elfride De Baere, Miles D Thompson, Tony Roscioli, Szymon Kielbasa, et al.
Pagina's: 146 - 151 - Health problems in children with Down syndrome
Auteurs: M Wojciechowski, C Francke, M Kluiver, T Boiy, Bert Callewaert, G Dembour, M De Rademaeker, A Jansen, S Kenis, L Sevenants, et al.
Pagina's: 14 - 18 - Critical evaluation of the use of bioinformatics as a theoretical tool to find high-potential sources of ACE inhibitory peptides
Auteurs: Lieselot Vercruysse, Guy Smagghe, Arie van der Bent, Aart van Amerongen, Maté Ongenaert
Pagina's: 575 - 582 - The N-myc downstream regulated gene (NDRG) family: diverse functions, multiple applications
Auteurs: Veerle Melotte, Xianghu Qu, Maté Ongenaert, Adriaan P de Bruine, H Scott Baldwin, Manon van Engeland
Pagina's: 4153 - 4166 - Genome wide expression, mutation and methylation analysis validates three new mouse models for neuroblastoma targeting MYCN, ALK and LIN28B for pre-clinical studies
Auteurs: Anneleen Beckers, Maté Ongenaert, Candy Kumps, Johannes H Schulte
Aantal pagina's: 1 - Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
Auteurs: Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najambadi, Andreas Walter Kuss, Wolfram Kress, Bart Loeys, et al.
Pagina's: E404 - E420 - Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
Auteurs: Ingrid MBH van de Laar, Denise van der Linde, Edwin HG Oei, Pieter K Bos, Johannes H Bessems, Sita M Bierma-Zeinstra, Belle L van Meer, Gerard Pals, Rogier A Oldenburg, Jos A Bekkers, et al.
Pagina's: 47 - 57 - 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Auteurs: Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Björn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, et al.
Pagina's: 21 - 27 - Marfan and Marfan-like syndromes
Auteurs: Bart Loeys
Pagina's: 9 - 16 - Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy
Auteurs: Ronald V Lacro, Lin T Guey, Harry C Dietz, Gail D Pearson, Anji T Yetman, Bruce D Gelb, Bart Loeys, D Woodrow Benson, Timothy J Bradley, Geoffrey A Forbus, et al.
Pagina's: 828 - 835